Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene.
The dystrophin-glycoprotein complex (DGC) is critical for muscle membrane stability. The sarcoglycans are transmembrane proteins within the DGC, and the function of the sarcoglycans is unknown. Mutations in sarcoglycan genes cause autosomal recessive muscular dystrophy. We have identified a new sarcoglycan gene with high homology to alpha-sarcoglycan highlighting the redundancy of the DGC. This gene, named epsilon-sarcoglycan, has an identical intron-exon structure to alpha-sarcoglycan, and is more broadly expressed. The characterization of epsilon-sarcoglycan should make it possible to determine if it, like the other sarcoglycan genes, is mutated in muscular dystrophy.
McNally
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EM
University of Chicago, Section of Cardiology, IL 60637, USA. emcnally@medicine.bsd.uchicago.edu
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Kunkel
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LM
D000483:Alleles; D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D003598:Cytoskeletal Proteins / Q000737:chemistry*; D016189:Dystrophin / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008562:Membrane Glycoproteins / Q000737:chemistry*; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000737:chemistry*; D009136:Muscular Dystrophies / Q000235:genetics; D049031:Sarcoglycans; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid
D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008562:Membrane Glycoproteins; D009124:Muscle Proteins; D049031:Sarcoglycans